No Burp Syndrome and Ehlers-Danlos Syndrome

Retrograde Cricopharyngeus Dysfunction (R-CDP): An Overlooked Swallowing Disorder

Retrograde Cricopharyngeus Dysfunction (R-CDP) is a rare condition that affects the cricopharyngeus muscle in the throat, which normally allows food and liquids to pass into the esophagus. In R-CDP, the muscle remains tense, leading to difficulties in swallowing and belching. Instead of smoothly transferring food into the esophagus, it often regurgitates back into the throat, causing discomfort and social inhibition. The inability to burp can lead to bloating, abdominal pain, and chest discomfort, further complicating the lives of those affected.

For many patients, the road to diagnosis is long and filled with frustration. The symptoms often resemble other gastrointestinal conditions, leading to a misdiagnosis or delayed recognition of R-CDP. Many individuals spend years undergoing various tests without finding the root cause of their issues.

Symptoms of No Burp Syndrome

R-CDP affects patients both physically and emotionally. The condition leads to more than just difficulties in swallowing and belching. Many patients experience social anxiety and isolation due to the embarrassing symptoms. Below is a breakdown of the most common symptoms experienced by patients:

• Inability to belch: Affecting all patients in the cohort, with 58% reporting that they had never been able to burp.
• Gurgling noises: Almost all patients (98%) experienced this symptom, which is often socially awkward.
• Abdominal and chest pain: 96% of patients reported discomfort in these areas, highlighting the physical burden of R-CDP.
• Abdominal bloating: Present in 86% of patients, contributing to both physical and emotional distress.
• Excessive flatulence: 90% experienced this, and 78% of patients reported social inhibition due to the embarrassment.

These symptoms cause a significant reduction in quality of life, not only from the physical discomfort but also from the emotional and social strain. Many individuals avoid social settings for fear of embarrassment, leading to feelings of isolation.

Common Experiences of Patients with R-CDP: Self-Discovery on Reddit

A striking finding in a recent European cohort study was that more than 50% of patients sought out a diagnosis themselves after discovering information about the condition on social media platforms, particularly Reddit which has a No Burp Subreddit with over 30,000 people. Many patients had been experiencing symptoms for years without a diagnosis, even after undergoing various diagnostic tests, such as upper endoscopy and esophageal manometry.

Most patients reported their symptoms started in childhood, and very few were diagnosed after the age of 50. The median BMI of patients was 22.7 kg/m², suggesting that most maintained a normal weight despite the discomfort and social inhibition caused by R-CDP. While the condition affects both males and females equally, the age and experience of onset varied slightly between genders.

Patient Demographics and Symptom Onset

Data from the cohort of 50 patients provided insights into the demographic trends of individuals with R-CDP. Over half (58%) of the patients reported an inability to burp since childhood, with 29 patients experiencing symptoms before the age of 10. The median age at diagnosis was 27.5 years, although some patients were diagnosed as early as 17, while others were not diagnosed until age 65.

A particularly important finding was that 66% of patients self-referred to clinics after discovering their condition through online resources like Reddit. This highlights both the delay in formal diagnosis and the importance of the internet in helping patients advocate for themselves with conditions that are still under-recognized by healthcare professionals.

EDS, Dysautonomia, and R-CDP: A Possible Connection

One of the most intriguing findings in the study was the high prevalence of connective tissue disorders, particularly Ehlers-Danlos Syndrome (EDS) and Marfan Syndrome, among the patients diagnosed with R-CDP. Connective tissue disorders affect collagen, which plays a crucial role in maintaining the elasticity and function of muscles, joints, and other tissues. Among the 50 patients in the study, 2 were diagnosed with EDS and 1 with Marfan Syndrome.

The rate of connective tissue disorders in this cohort was notably high, especially considering that these conditions are relatively rare in the general population. The data suggest a potential link between EDS and R-CDP, with EDS-related laxity in connective tissues potentially contributing to cricopharyngeus muscle dysfunction and esophageal motility issues. The connection could also be related to dysautonomia type conditions like POTS, a condition that is prevalent in hypermobile Ehlers-Danlos Syndrome.

One particularly interesting observation was that all the patients with EDS were male, despite EDS being more commonly diagnosed in females. This raises important questions about gender-specific presentations of EDS and its connection to R-CDP, warranting further research. Individuals with EDS, especially the hypermobile subtype (hEDS), frequently experience gastrointestinal issues such as dysphagia and gastroparesis, which could explain their increased risk of R-CDP.

Misdiagnosis: The Long Journey to Diagnosis

Patients with R-CDP often endure years of misdiagnosis, undergoing multiple invasive tests like upper endoscopy, esophageal manometry, and even gallbladder assessments, without finding relief. These diagnostic procedures are often inconclusive for R-CDP, as they are designed to detect other common gastrointestinal issues.

A particularly telling symptom is the inability to burp, which is unique to R-CDP and should be a key indicator for healthcare providers. However, because R-CDP is not well-known, physicians may overlook it in favor of more familiar conditions like GERD or IBS.

Related Conditions and Common Misdiagnoses

Retrograde Cricopharyngeus Dysfunction (R-CDP) shares many symptoms with other gastrointestinal and upper esophageal disorders, often leading to confusion in diagnosis. Misdiagnosis is common, with many patients being treated for other conditions long before they are correctly diagnosed with R-CDP. Below are some conditions that can be mistaken for R-CDP and other related disorders:

1. Gastroesophageal Reflux Disease (GERD):
   One of the most common misdiagnoses for patients with R-CDP is GERD. Both conditions involve discomfort in the upper digestive tract, but while GERD is caused by stomach acid flowing back into the esophagus, R-CDP results from the cricopharyngeus muscle’s inability to relax and release air or regurgitated food. Many R-CDP patients undergo treatments for GERD, including acid-suppressing medications, without relief before the true issue is identified.
2. Aerophagia:
   Aerophagia, the excessive swallowing of air, can cause bloating, abdominal pain, and excessive belching—symptoms that overlap with R-CDP. However, patients with R-CDP cannot burp, leading to trapped air and distension, unlike those with aerophagia, who often belch frequently. Misdiagnosing R-CDP as aerophagia may result in incorrect treatments focused on behavioral changes or swallowing techniques.
3. Irritable Bowel Syndrome (IBS):
   IBS is a common diagnosis when patients present with bloating, abdominal discomfort, and changes in bowel habits. However, in R-CDP, the primary issue lies in the inability to burp and relieve pressure in the upper esophagus. Treating R-CDP patients for IBS can mask the underlying problem, as the bloating and discomfort are often mistakenly attributed to bowel dysfunction rather than esophageal motility issues.
4. Gallbladder Dysfunction:
   Some patients with R-CDP are misdiagnosed with gallbladder problems due to overlapping symptoms such as chest and upper abdominal pain, particularly after eating. While gallbladder issues are related to bile storage and digestion, R-CDP's symptoms stem from the cricopharyngeus muscle, leading to confusion in diagnosis.

Treatment and Success Rates

One of the first-line treatments for R-CDP is the injection of Botulinum toxin (Botox) into the cricopharyngeus muscle. This temporary solution paralyzes the muscle, allowing it to relax and enabling the patient to burp. Studies have shown that Botox injections have a success rate of approximately 88.2%, with side effects like temporary swallowing difficulty affecting only about 30.6% of patients. In cases where Botox is ineffective, a surgical option, partial cricopharyngeal myotomy, may be considered to permanently address the issue.

A Path Forward: Raising Awareness Among Healthcare Providers

Despite the growing awareness among patients, R-CDP is still largely unknown among healthcare professionals, especially gastroenterologists and laryngologists, who are often the first specialists these patients see. Due to the lack of awareness, many patients endure years of misdiagnosis and inconclusive tests before receiving a proper diagnosis.

Reports like this aim to shift the focus toward R-CDP, encouraging primary care physicians and specialists to consider this condition more frequently, particularly in patients with connective tissue disorders like EDS. Botox injections into the cricopharyngeus muscle have been shown to provide effective relief in many cases, temporarily relaxing the muscle and improving swallowing and belching functions.

Conclusion

Retrograde Cricopharyngeus Dysfunction is an underdiagnosed disorder that has a significant impact on patients' quality of life. The high prevalence of R-CDP among individuals with connective tissue disorders like Ehlers-Danlos Syndrome underscores the need for a multidisciplinary approach to diagnosis and treatment. With the growing availability of information on platforms like Reddit, more patients are finding the answers they need, but there remains a gap in healthcare provider awareness.

For individuals living with R-CDP and related conditions like EDS, coordinated care between gastroenterologists, speech therapists, and neurologists is critical. As awareness of the condition grows, earlier diagnosis and treatment could prevent years of unnecessary discomfort and improve patients' overall well-being.

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References

1. Arnaert, S., J. Arts, K. Raymenants, F. Baert, and K. Delsupehe. "Retrograde Cricopharyngeus Dysfunction, a New Motility Disorder: Single Center Case Series and Treatment Results." Journal of Neurogastroenterology and Motility, vol. 30, no. 2, 2024, pp. 177-183, doi:10.5056/jnm23099. PMID: 38576368; PMCID: PMC10999848.
2. Reddit Users Bring Awareness to 'No-Burp Syndrome'. KFF Health News, 2024, https://undark.org/2024/09/18/reddit-users-bring-awareness-no-burp-syndrome/.
3. Karagama, Y. "Abelchia: Inability to Belch/Burp—a New Disorder? Retrograde Cricopharyngeal Dysfunction (RCPD)." European Archives of Oto-Rhino-Laryngology, vol. 278, no. 12, 2021, pp. 5087-5091, doi:10.1007/s00405-021-06790-w. PMID: 33893849; PMCID: PMC8553696.
4. Malhotra, Raj, et al. "Diagnosis and Management of Retrograde Cricopharyngeal Dysfunction: A Systematic Review." OTO Open, vol. 8, no. 4, 2024, p. e70014, doi:10.1002/oto2.70014.

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